Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6925
Gene name	Transcription factor 4
Gene symbol	TCF4
Synonyms (NCBI Gene)	CDG2TE2-2FCD2FECD3ITF-2ITF2PTHSSEF-2SEF2SEF2-1SEF2-1ASEF2-1BSEF2-1DTCF-4bHLHb19
Chromosome	18
Chromosome location	18q21.2
Summary	This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box (`E-box`) binding site (`CANNTG`) - a motif first identified in immunoglobulin enhancers. This gene is broadly expresse

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121909120	G>A,T	Likely-pathogenic, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs121909121	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121909122	G>A	Pathogenic	Stop gained, coding sequence variant
rs121909123	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs139876825	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs370160994	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs373434281	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Intron variant
rs398123560	C>T	Pathogenic	Coding sequence variant, stop gained
rs398123561	CTTT>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs587784458	C>T	Pathogenic	Splice donor variant
rs587784459	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs587784460	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs587784462	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs587784463	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs587784464	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs587784465	C>A,T	Pathogenic	Splice donor variant
rs587784466	C>G	Pathogenic	Splice acceptor variant
rs587784468	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587784469	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant
rs587784470	T>C	Pathogenic	Splice acceptor variant
rs727504174	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs727504175	G>A	Pathogenic	Stop gained, coding sequence variant
rs727505396	G>A	Pathogenic	Stop gained, coding sequence variant
rs786200992	->T	Pathogenic	Frameshift variant, coding sequence variant
rs796053418	G>A	Pathogenic	Stop gained, coding sequence variant
rs796053424	->CT	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs796053425	TCC>A	Pathogenic	Frameshift variant, coding sequence variant
rs796053427	ACACTCTGCCCCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs796053428	->GGCC	Pathogenic	Frameshift variant, coding sequence variant
rs796053429	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs797045003	G>A	Pathogenic	Missense variant, coding sequence variant
rs797045072	C>A,T	Pathogenic	Missense variant, splice donor variant, coding sequence variant
rs797046033	G>A	Pathogenic	Stop gained, coding sequence variant
rs797046034	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs797046035	->G	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs797046036	->AC	Pathogenic	Splice donor variant
rs863223404	T>CC	Pathogenic	Frameshift variant, coding sequence variant
rs863224934	T>C	Likely-pathogenic	Missense variant, coding sequence variant, splice acceptor variant
rs878853149	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs886041248	C>T	Pathogenic	Coding sequence variant, missense variant
rs886041578	G>A	Pathogenic	Coding sequence variant, stop gained
rs886041910	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518339	G>C	Pathogenic	Stop gained, coding sequence variant
rs1057518848	->ATTG	Pathogenic	Frameshift variant, coding sequence variant
rs1057518864	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1057519592	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057521070	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057524821	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795443	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064796134	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064796538	G>C	Pathogenic	Stop gained, coding sequence variant
rs1064796853	G>A	Pathogenic	Stop gained, coding sequence variant
rs1131691653	CCGAAGCA>-	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1131691735	G>A	Pathogenic, pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs1135401807	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555708227	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555710069	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555710127	AGGAGCTTGGTC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555710171	GTCTGGGGCTTG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555710416	GCCGA>AG	Likely-pathogenic	Inframe indel, coding sequence variant
rs1555710523	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555710726	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1555710757	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555710866	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555711245	T>C	Pathogenic	Splice acceptor variant
rs1555717982	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555718063	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555718354	->GACTACTG	Likely-pathogenic	Stop gained, coding sequence variant
rs1555718426	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555721921	A>C,G	Pathogenic, likely-pathogenic	Splice donor variant
rs1555722023	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555763998	G>C	Pathogenic	Stop gained, coding sequence variant
rs1555764170	CC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555764460	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1555764839	A>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1555775233	->GA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555778204	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555782724	C>T	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1555789019	ACCCAT>GGGAC	Pathogenic	Splice donor variant, coding sequence variant
rs1555789026	ATTATACT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555796785	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555797231	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555797248	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555917396	C>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1568303086	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1568303352	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1568331766	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568471940	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568490874	T>C	Pathogenic	Intron variant
rs1568509890	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568523662	CCCGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568620706	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568620774	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1568622225	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1569138023	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1599375711	CGC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1599377405	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1599570613	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1600275237	CACAACCTTGTAAATACACTAAAACACTTGAATTGTACACCTGAAATGGGCTCATCGTATGTTAAGTGAATTATATCTCAATAAAGCTGATTTTTTAAAAAACAGCAACAATAGTATCTATATCTGAAATTCTAACTCTATATGATAACTATAGAGTCTATAAATTTCATCACTTACCATGAGTGAATGTCTGTTGGCTGAAAGAAGGCCGGTTCCATACCCTGAGCCCAGACCACCCATGGCTCCATTATGAGA	Likely-pathogenic	Coding sequence variant, splice donor variant, splice acceptor variant, intron variant
rs1600285757	G>C	Pathogenic	Coding sequence variant, stop gained
rs1600290109	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600404016	->CA	Pathogenic	Coding sequence variant, frameshift variant
rs1600404795	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1600504872	G>T	Pathogenic	Coding sequence variant, stop gained
rs1600578193	T>C	Pathogenic	Splice acceptor variant
rs1600861021	TGACTCACCCATT>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1600861681	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600865932	A>T	Pathogenic	Coding sequence variant, stop gained
rs1600866162	T>C	Pathogenic	Splice acceptor variant
rs1601258465	TAGCCTGGCG>GTCCCTATTGTAGTCGGC	Pathogenic	Coding sequence variant, inframe indel, 5 prime UTR variant, stop gained
rs1601260508	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant, splice acceptor variant
rs1603282307	A>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1603624808	TT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, upstream transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005846	hsa-miR-204-5p	Luciferase reporter assayMicroarrayqRT-PCR	21282569
MIRT020336	hsa-miR-130b-3p	Sequencing	20371350
MIRT031229	hsa-miR-19b-3p	Sequencing	20371350
MIRT051694	hsa-let-7e-5p	CLASH	23622248
MIRT053443	hsa-miR-203a-3p	Microarray	23807165
MIRT437782	hsa-miR-452-5p	A172	23695168
MIRT438192	hsa-miR-126-3p	Luciferase reporter assay	24190507
MIRT438192	hsa-miR-126-3p	Luciferase reporter assay	24190507
MIRT438192	hsa-miR-126-3p	Luciferase reporter assay	24190507
MIRT438192	hsa-miR-126-3p	Luciferase reporter assay	24190507
MIRT439479	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439480	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT439478	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439479	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439480	hsa-miR-155-5p	HITS-CLIP	22473208
MIRT726345	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT726344	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT726343	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726342	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT439478	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT053443	hsa-miR-203a-3p	Luciferase reporter assayqRT-PCRWestern blot	26493444
MIRT053443	hsa-miR-203a-3p	Luciferase reporter assayqRT-PCRWestern blot	26493444
MIRT439479	hsa-miR-106b-5p	Flow cytometryLuciferase reporter assayqRT-PCRWestern blotting	34278441
MIRT734697	hsa-miR-301b-3p	qRT-PCR	31484947
MIRT438192	hsa-miR-126-3p	RNA-seq	33398982
MIRT735872	hsa-miR-139-5p	Luciferase reporter assayWestern blottingMicroarrayImmunohistochemistry (IHC)ImmunofluorescenceqRT-PCRin vivo gain/loss-of-function experiments	32641995
MIRT735872	hsa-miR-139-5p	Luciferase reporter assayWestern blottingMicroarrayImmunohistochemistry (IHC)ImmunofluorescenceChIP-seqqRT-PCRIn situ hybridization	32641995
MIRT736691	hsa-miR-26b-5p	Luciferase reporter assayWestern blottingImmunofluorescence	32579400
MIRT755895	hsa-miR-369-3p	Luciferase reporter assayWestern blottingqRT-PCR	37969834
MIRT439480	hsa-miR-155-5p	Luciferase reporter assayWestern blottingqRT-PCRImmunofluorescenceIn situ hybridization	36069070
MIRT1416333	hsa-miR-105	CLIP-seq
MIRT1416334	hsa-miR-147	CLIP-seq
MIRT1416335	hsa-miR-219-2-3p	CLIP-seq
MIRT1416336	hsa-miR-323-3p	CLIP-seq
MIRT1416337	hsa-miR-3607-3p	CLIP-seq
MIRT1416338	hsa-miR-3911	CLIP-seq
MIRT1416339	hsa-miR-4474-3p	CLIP-seq
MIRT1416340	hsa-miR-4480	CLIP-seq
MIRT1416341	hsa-miR-4687-3p	CLIP-seq
MIRT1416342	hsa-miR-4699-3p	CLIP-seq
MIRT1416343	hsa-miR-4719	CLIP-seq
MIRT1416344	hsa-miR-513b	CLIP-seq
MIRT1416345	hsa-miR-644	CLIP-seq
MIRT1416346	hsa-miR-124	CLIP-seq
MIRT1416347	hsa-miR-128	CLIP-seq
MIRT1416348	hsa-miR-129-5p	CLIP-seq
MIRT1416349	hsa-miR-132	CLIP-seq
MIRT1416350	hsa-miR-2052	CLIP-seq
MIRT1416351	hsa-miR-2053	CLIP-seq
MIRT1416352	hsa-miR-212	CLIP-seq
MIRT1416353	hsa-miR-2276	CLIP-seq
MIRT1416354	hsa-miR-297	CLIP-seq
MIRT1416355	hsa-miR-298	CLIP-seq
MIRT1416356	hsa-miR-3143	CLIP-seq
MIRT1416357	hsa-miR-3149	CLIP-seq
MIRT1416358	hsa-miR-3202	CLIP-seq
MIRT1416359	hsa-miR-3647-3p	CLIP-seq
MIRT1416360	hsa-miR-4307	CLIP-seq
MIRT1416361	hsa-miR-4533	CLIP-seq
MIRT1416362	hsa-miR-455-3p	CLIP-seq
MIRT1416363	hsa-miR-4659a-3p	CLIP-seq
MIRT1416364	hsa-miR-4659b-3p	CLIP-seq
MIRT1416365	hsa-miR-4668-3p	CLIP-seq
MIRT1416366	hsa-miR-4686	CLIP-seq
MIRT1416367	hsa-miR-4698	CLIP-seq
MIRT1416368	hsa-miR-4703-3p	CLIP-seq
MIRT1416369	hsa-miR-4731-3p	CLIP-seq
MIRT1416370	hsa-miR-4772-3p	CLIP-seq
MIRT1416371	hsa-miR-4801	CLIP-seq
MIRT1416372	hsa-miR-506	CLIP-seq
MIRT1416373	hsa-miR-543	CLIP-seq
MIRT1416374	hsa-miR-567	CLIP-seq
MIRT1416375	hsa-miR-607	CLIP-seq
MIRT1416376	hsa-miR-767-5p	CLIP-seq
MIRT2124868	hsa-miR-1305	CLIP-seq
MIRT2124869	hsa-miR-186	CLIP-seq
MIRT2124870	hsa-miR-25	CLIP-seq
MIRT2124871	hsa-miR-3133	CLIP-seq
MIRT2124872	hsa-miR-32	CLIP-seq
MIRT2124873	hsa-miR-363	CLIP-seq
MIRT2124874	hsa-miR-367	CLIP-seq
MIRT2124875	hsa-miR-4328	CLIP-seq
MIRT1416368	hsa-miR-4703-3p	CLIP-seq
MIRT2124876	hsa-miR-4768-3p	CLIP-seq
MIRT2124877	hsa-miR-513a-3p	CLIP-seq
MIRT2124878	hsa-miR-593	CLIP-seq
MIRT2124879	hsa-miR-92a	CLIP-seq
MIRT2124880	hsa-miR-92b	CLIP-seq
MIRT2347279	hsa-miR-1252	CLIP-seq
MIRT1416348	hsa-miR-129-5p	CLIP-seq
MIRT2347280	hsa-miR-1299	CLIP-seq
MIRT2347281	hsa-miR-3677-5p	CLIP-seq
MIRT2347282	hsa-miR-4276	CLIP-seq
MIRT2347283	hsa-miR-431	CLIP-seq
MIRT2347284	hsa-miR-4715-5p	CLIP-seq
MIRT2347285	hsa-miR-571	CLIP-seq
MIRT2347286	hsa-miR-614	CLIP-seq
MIRT2347287	hsa-miR-630	CLIP-seq
MIRT2347288	hsa-miR-646	CLIP-seq
MIRT2347289	hsa-miR-671-5p	CLIP-seq
MIRT2347290	hsa-miR-875-3p	CLIP-seq
MIRT2347281	hsa-miR-3677-5p	CLIP-seq
MIRT2347282	hsa-miR-4276	CLIP-seq
MIRT2347288	hsa-miR-646	CLIP-seq
MIRT2640092	hsa-miR-106a	CLIP-seq
MIRT2640093	hsa-miR-106b	CLIP-seq
MIRT2640094	hsa-miR-1227	CLIP-seq
MIRT2640095	hsa-miR-1246	CLIP-seq
MIRT2640096	hsa-miR-1256	CLIP-seq
MIRT2640097	hsa-miR-1272	CLIP-seq
MIRT2640098	hsa-miR-1284	CLIP-seq
MIRT2640099	hsa-miR-1290	CLIP-seq
MIRT1416348	hsa-miR-129-5p	CLIP-seq
MIRT2640100	hsa-miR-1301	CLIP-seq
MIRT2640101	hsa-miR-130a	CLIP-seq
MIRT2640102	hsa-miR-130b	CLIP-seq
MIRT739369	hsa-miR-137	CLIP-seq
MIRT2640103	hsa-miR-140-3p	CLIP-seq
MIRT2640104	hsa-miR-141	CLIP-seq
MIRT2640105	hsa-miR-142-5p	CLIP-seq
MIRT2640106	hsa-miR-148a	CLIP-seq
MIRT2640107	hsa-miR-148b	CLIP-seq
MIRT2640108	hsa-miR-152	CLIP-seq
MIRT2640109	hsa-miR-155	CLIP-seq
MIRT2640110	hsa-miR-17	CLIP-seq
MIRT2640111	hsa-miR-183	CLIP-seq
MIRT2640112	hsa-miR-200a	CLIP-seq
MIRT2640113	hsa-miR-200b	CLIP-seq
MIRT2640114	hsa-miR-200c	CLIP-seq
MIRT2640115	hsa-miR-20a	CLIP-seq
MIRT2640116	hsa-miR-20b	CLIP-seq
MIRT2640117	hsa-miR-216b	CLIP-seq
MIRT2640118	hsa-miR-217	CLIP-seq
MIRT739367	hsa-miR-221	CLIP-seq
MIRT739368	hsa-miR-222	CLIP-seq
MIRT2640119	hsa-miR-28-5p	CLIP-seq
MIRT2640120	hsa-miR-299-3p	CLIP-seq
MIRT2640121	hsa-miR-301a	CLIP-seq
MIRT2640122	hsa-miR-301b	CLIP-seq
MIRT2640123	hsa-miR-302f	CLIP-seq
MIRT2640124	hsa-miR-3117-3p	CLIP-seq
MIRT2640125	hsa-miR-3139	CLIP-seq
MIRT2640126	hsa-miR-3140-3p	CLIP-seq
MIRT2640127	hsa-miR-3148	CLIP-seq
MIRT2640128	hsa-miR-3153	CLIP-seq
MIRT2640129	hsa-miR-3163	CLIP-seq
MIRT2640130	hsa-miR-3165	CLIP-seq
MIRT2640131	hsa-miR-3167	CLIP-seq
MIRT2640132	hsa-miR-3169	CLIP-seq
MIRT2640133	hsa-miR-3173-3p	CLIP-seq
MIRT2640134	hsa-miR-3200-5p	CLIP-seq
MIRT2640135	hsa-miR-330-3p	CLIP-seq
MIRT2640136	hsa-miR-340	CLIP-seq
MIRT2640137	hsa-miR-3545-3p	CLIP-seq
MIRT2640138	hsa-miR-3545-5p	CLIP-seq
MIRT2640139	hsa-miR-3591-5p	CLIP-seq
MIRT2640140	hsa-miR-3613-3p	CLIP-seq
MIRT2640141	hsa-miR-3658	CLIP-seq
MIRT2640142	hsa-miR-3666	CLIP-seq
MIRT2640143	hsa-miR-3672	CLIP-seq
MIRT2640144	hsa-miR-3682-3p	CLIP-seq
MIRT2640145	hsa-miR-3684	CLIP-seq
MIRT2640146	hsa-miR-3688-5p	CLIP-seq
MIRT2640147	hsa-miR-3689d	CLIP-seq
MIRT755895	hsa-miR-369-3p	CLIP-seq
MIRT2640148	hsa-miR-371b-5p	CLIP-seq
MIRT2640149	hsa-miR-374a	CLIP-seq
MIRT2640150	hsa-miR-374b	CLIP-seq
MIRT2640151	hsa-miR-374c	CLIP-seq
MIRT2640152	hsa-miR-3908	CLIP-seq
MIRT2640153	hsa-miR-3919	CLIP-seq
MIRT2640154	hsa-miR-3942-3p	CLIP-seq
MIRT2640155	hsa-miR-412	CLIP-seq
MIRT2640156	hsa-miR-4255	CLIP-seq
MIRT2640157	hsa-miR-4256	CLIP-seq
MIRT2640158	hsa-miR-4261	CLIP-seq
MIRT2640159	hsa-miR-4282	CLIP-seq
MIRT2640160	hsa-miR-429	CLIP-seq
MIRT2640161	hsa-miR-4295	CLIP-seq
MIRT2640162	hsa-miR-4326	CLIP-seq
MIRT2124875	hsa-miR-4328	CLIP-seq
MIRT2640163	hsa-miR-4418	CLIP-seq
MIRT2640164	hsa-miR-4428	CLIP-seq
MIRT2640165	hsa-miR-4434	CLIP-seq
MIRT2640166	hsa-miR-4435	CLIP-seq
MIRT2640167	hsa-miR-4453	CLIP-seq
MIRT2640168	hsa-miR-4470	CLIP-seq
MIRT2640169	hsa-miR-4477b	CLIP-seq
MIRT2640170	hsa-miR-448	CLIP-seq
MIRT2640171	hsa-miR-4491	CLIP-seq
MIRT2640172	hsa-miR-4494	CLIP-seq
MIRT2640173	hsa-miR-4502	CLIP-seq
MIRT2640174	hsa-miR-4516	CLIP-seq
MIRT2640175	hsa-miR-4528	CLIP-seq
MIRT2640176	hsa-miR-4535	CLIP-seq
MIRT2640177	hsa-miR-4538	CLIP-seq
MIRT2640178	hsa-miR-454	CLIP-seq
MIRT2640179	hsa-miR-4642	CLIP-seq
MIRT2640180	hsa-miR-4645-3p	CLIP-seq
MIRT2640181	hsa-miR-4657	CLIP-seq
MIRT2640182	hsa-miR-4660	CLIP-seq
MIRT2640183	hsa-miR-4662a-3p	CLIP-seq
MIRT2640184	hsa-miR-4666-3p	CLIP-seq
MIRT2640185	hsa-miR-4667-3p	CLIP-seq
MIRT2640186	hsa-miR-4668-5p	CLIP-seq
MIRT2640187	hsa-miR-4672	CLIP-seq
MIRT1416342	hsa-miR-4699-3p	CLIP-seq
MIRT2640188	hsa-miR-4705	CLIP-seq
MIRT739370	hsa-miR-4729	CLIP-seq
MIRT2640189	hsa-miR-4759	CLIP-seq
MIRT2124876	hsa-miR-4768-3p	CLIP-seq
MIRT2640190	hsa-miR-4773	CLIP-seq
MIRT2640191	hsa-miR-4776-5p	CLIP-seq
MIRT2640192	hsa-miR-4777-5p	CLIP-seq
MIRT2640193	hsa-miR-4778-5p	CLIP-seq
MIRT2640194	hsa-miR-4785	CLIP-seq
MIRT2640195	hsa-miR-4789-3p	CLIP-seq
MIRT2640196	hsa-miR-4789-5p	CLIP-seq
MIRT2640197	hsa-miR-4793-3p	CLIP-seq
MIRT2640198	hsa-miR-4795-5p	CLIP-seq
MIRT2640199	hsa-miR-4802-3p	CLIP-seq
MIRT2640200	hsa-miR-485-3p	CLIP-seq
MIRT2640201	hsa-miR-499a-5p	CLIP-seq
MIRT2640202	hsa-miR-502-5p	CLIP-seq
MIRT2640203	hsa-miR-5047	CLIP-seq
MIRT2640204	hsa-miR-509-3-5p	CLIP-seq
MIRT2640205	hsa-miR-509-5p	CLIP-seq
MIRT2640206	hsa-miR-510	CLIP-seq
MIRT2640207	hsa-miR-511	CLIP-seq
MIRT2640208	hsa-miR-512-3p	CLIP-seq
MIRT2640209	hsa-miR-512-5p	CLIP-seq
MIRT2124877	hsa-miR-513a-3p	CLIP-seq
MIRT2640210	hsa-miR-518d-5p	CLIP-seq
MIRT2640211	hsa-miR-519a	CLIP-seq
MIRT2640212	hsa-miR-519b-3p	CLIP-seq
MIRT2640213	hsa-miR-519b-5p	CLIP-seq
MIRT2640214	hsa-miR-519c-3p	CLIP-seq
MIRT2640215	hsa-miR-519c-5p	CLIP-seq
MIRT2640216	hsa-miR-519d	CLIP-seq
MIRT2640217	hsa-miR-520c-5p	CLIP-seq
MIRT2640218	hsa-miR-520d-5p	CLIP-seq
MIRT2640219	hsa-miR-522	CLIP-seq
MIRT2640220	hsa-miR-524-5p	CLIP-seq
MIRT2640221	hsa-miR-526a	CLIP-seq
MIRT2640222	hsa-miR-539	CLIP-seq
MIRT2640223	hsa-miR-544	CLIP-seq
MIRT2640224	hsa-miR-548ae	CLIP-seq
MIRT2640225	hsa-miR-548aj	CLIP-seq
MIRT2640226	hsa-miR-548am	CLIP-seq
MIRT2640227	hsa-miR-548c-3p	CLIP-seq
MIRT2640228	hsa-miR-548t	CLIP-seq
MIRT739366	hsa-miR-548v	CLIP-seq
MIRT2640229	hsa-miR-548x	CLIP-seq
MIRT2640230	hsa-miR-568	CLIP-seq
MIRT2640231	hsa-miR-579	CLIP-seq
MIRT2640232	hsa-miR-591	CLIP-seq
MIRT2640233	hsa-miR-606	CLIP-seq
MIRT2347286	hsa-miR-614	CLIP-seq
MIRT2640234	hsa-miR-617	CLIP-seq
MIRT2640235	hsa-miR-629	CLIP-seq
MIRT2347287	hsa-miR-630	CLIP-seq
MIRT2640236	hsa-miR-651	CLIP-seq
MIRT2640237	hsa-miR-655	CLIP-seq
MIRT2640238	hsa-miR-656	CLIP-seq
MIRT2640239	hsa-miR-659	CLIP-seq
MIRT2640240	hsa-miR-664	CLIP-seq
MIRT2640241	hsa-miR-708	CLIP-seq
MIRT2640242	hsa-miR-711	CLIP-seq
MIRT2640243	hsa-miR-876-5p	CLIP-seq
MIRT2640244	hsa-miR-890	CLIP-seq
MIRT2640245	hsa-miR-891b	CLIP-seq
MIRT2640246	hsa-miR-93	CLIP-seq
MIRT2640133	hsa-miR-3173-3p	CLIP-seq
MIRT2640144	hsa-miR-3682-3p	CLIP-seq
MIRT2640171	hsa-miR-4491	CLIP-seq
MIRT2640181	hsa-miR-4657	CLIP-seq
MIRT2640206	hsa-miR-510	CLIP-seq
MIRT2640209	hsa-miR-512-5p	CLIP-seq
MIRT2640227	hsa-miR-548c-3p	CLIP-seq
MIRT2640233	hsa-miR-606	CLIP-seq
MIRT2640111	hsa-miR-183	CLIP-seq
MIRT2640133	hsa-miR-3173-3p	CLIP-seq
MIRT2640136	hsa-miR-340	CLIP-seq
MIRT2640206	hsa-miR-510	CLIP-seq
MIRT2640209	hsa-miR-512-5p	CLIP-seq
MIRT2640227	hsa-miR-548c-3p	CLIP-seq
MIRT2640233	hsa-miR-606	CLIP-seq
MIRT2640092	hsa-miR-106a	CLIP-seq
MIRT2640093	hsa-miR-106b	CLIP-seq
MIRT2640094	hsa-miR-1227	CLIP-seq
MIRT2640095	hsa-miR-1246	CLIP-seq
MIRT2640096	hsa-miR-1256	CLIP-seq
MIRT2640097	hsa-miR-1272	CLIP-seq
MIRT2640098	hsa-miR-1284	CLIP-seq
MIRT2640099	hsa-miR-1290	CLIP-seq
MIRT1416348	hsa-miR-129-5p	CLIP-seq
MIRT2640100	hsa-miR-1301	CLIP-seq
MIRT2640101	hsa-miR-130a	CLIP-seq
MIRT2640102	hsa-miR-130b	CLIP-seq
MIRT739369	hsa-miR-137	CLIP-seq
MIRT2640104	hsa-miR-141	CLIP-seq
MIRT2640105	hsa-miR-142-5p	CLIP-seq
MIRT2640106	hsa-miR-148a	CLIP-seq
MIRT2640107	hsa-miR-148b	CLIP-seq
MIRT2640108	hsa-miR-152	CLIP-seq
MIRT2640109	hsa-miR-155	CLIP-seq
MIRT2640110	hsa-miR-17	CLIP-seq
MIRT2640111	hsa-miR-183	CLIP-seq
MIRT2640112	hsa-miR-200a	CLIP-seq
MIRT2640115	hsa-miR-20a	CLIP-seq
MIRT2640116	hsa-miR-20b	CLIP-seq
MIRT2640117	hsa-miR-216b	CLIP-seq
MIRT2640118	hsa-miR-217	CLIP-seq
MIRT739367	hsa-miR-221	CLIP-seq
MIRT739368	hsa-miR-222	CLIP-seq
MIRT2640119	hsa-miR-28-5p	CLIP-seq
MIRT2640120	hsa-miR-299-3p	CLIP-seq
MIRT2640121	hsa-miR-301a	CLIP-seq
MIRT2640122	hsa-miR-301b	CLIP-seq
MIRT2640124	hsa-miR-3117-3p	CLIP-seq
MIRT2640125	hsa-miR-3139	CLIP-seq
MIRT2640126	hsa-miR-3140-3p	CLIP-seq
MIRT2640127	hsa-miR-3148	CLIP-seq
MIRT2640128	hsa-miR-3153	CLIP-seq
MIRT2640129	hsa-miR-3163	CLIP-seq
MIRT2640131	hsa-miR-3167	CLIP-seq
MIRT2640132	hsa-miR-3169	CLIP-seq
MIRT2640133	hsa-miR-3173-3p	CLIP-seq
MIRT2640134	hsa-miR-3200-5p	CLIP-seq
MIRT2692837	hsa-miR-320e	CLIP-seq
MIRT2640135	hsa-miR-330-3p	CLIP-seq
MIRT2640136	hsa-miR-340	CLIP-seq
MIRT2640137	hsa-miR-3545-3p	CLIP-seq
MIRT2640138	hsa-miR-3545-5p	CLIP-seq
MIRT2640139	hsa-miR-3591-5p	CLIP-seq
MIRT2640140	hsa-miR-3613-3p	CLIP-seq
MIRT2640141	hsa-miR-3658	CLIP-seq
MIRT2640142	hsa-miR-3666	CLIP-seq
MIRT2640144	hsa-miR-3682-3p	CLIP-seq
MIRT2640145	hsa-miR-3684	CLIP-seq
MIRT2640146	hsa-miR-3688-5p	CLIP-seq
MIRT2640147	hsa-miR-3689d	CLIP-seq
MIRT755895	hsa-miR-369-3p	CLIP-seq
MIRT2640148	hsa-miR-371b-5p	CLIP-seq
MIRT2640149	hsa-miR-374a	CLIP-seq
MIRT2640150	hsa-miR-374b	CLIP-seq
MIRT2640151	hsa-miR-374c	CLIP-seq
MIRT2640152	hsa-miR-3908	CLIP-seq
MIRT2640156	hsa-miR-4255	CLIP-seq
MIRT2640157	hsa-miR-4256	CLIP-seq
MIRT2640158	hsa-miR-4261	CLIP-seq
MIRT2640159	hsa-miR-4282	CLIP-seq
MIRT2640161	hsa-miR-4295	CLIP-seq
MIRT1416360	hsa-miR-4307	CLIP-seq
MIRT2347283	hsa-miR-431	CLIP-seq
MIRT2640162	hsa-miR-4326	CLIP-seq
MIRT2640163	hsa-miR-4418	CLIP-seq
MIRT2640164	hsa-miR-4428	CLIP-seq
MIRT2640165	hsa-miR-4434	CLIP-seq
MIRT2640166	hsa-miR-4435	CLIP-seq
MIRT2640167	hsa-miR-4453	CLIP-seq
MIRT2640168	hsa-miR-4470	CLIP-seq
MIRT2640169	hsa-miR-4477b	CLIP-seq
MIRT2640170	hsa-miR-448	CLIP-seq
MIRT2640171	hsa-miR-4491	CLIP-seq
MIRT2640172	hsa-miR-4494	CLIP-seq
MIRT2640173	hsa-miR-4502	CLIP-seq
MIRT2640174	hsa-miR-4516	CLIP-seq
MIRT2640175	hsa-miR-4528	CLIP-seq
MIRT2640177	hsa-miR-4538	CLIP-seq
MIRT2640178	hsa-miR-454	CLIP-seq
MIRT2692838	hsa-miR-4635	CLIP-seq
MIRT2640180	hsa-miR-4645-3p	CLIP-seq
MIRT2640181	hsa-miR-4657	CLIP-seq
MIRT2640182	hsa-miR-4660	CLIP-seq
MIRT2640183	hsa-miR-4662a-3p	CLIP-seq
MIRT2640184	hsa-miR-4666-3p	CLIP-seq
MIRT2640185	hsa-miR-4667-3p	CLIP-seq
MIRT2640186	hsa-miR-4668-5p	CLIP-seq
MIRT2640187	hsa-miR-4672	CLIP-seq
MIRT1416342	hsa-miR-4699-3p	CLIP-seq
MIRT2640188	hsa-miR-4705	CLIP-seq
MIRT739370	hsa-miR-4729	CLIP-seq
MIRT2640189	hsa-miR-4759	CLIP-seq
MIRT2124876	hsa-miR-4768-3p	CLIP-seq
MIRT2640190	hsa-miR-4773	CLIP-seq
MIRT2640192	hsa-miR-4777-5p	CLIP-seq
MIRT2640193	hsa-miR-4778-5p	CLIP-seq
MIRT2640194	hsa-miR-4785	CLIP-seq
MIRT2640195	hsa-miR-4789-3p	CLIP-seq
MIRT2640196	hsa-miR-4789-5p	CLIP-seq
MIRT2640197	hsa-miR-4793-3p	CLIP-seq
MIRT2640198	hsa-miR-4795-5p	CLIP-seq
MIRT2640199	hsa-miR-4802-3p	CLIP-seq
MIRT2640201	hsa-miR-499a-5p	CLIP-seq
MIRT2640202	hsa-miR-502-5p	CLIP-seq
MIRT2640203	hsa-miR-5047	CLIP-seq
MIRT2640204	hsa-miR-509-3-5p	CLIP-seq
MIRT2640205	hsa-miR-509-5p	CLIP-seq
MIRT2640206	hsa-miR-510	CLIP-seq
MIRT2640207	hsa-miR-511	CLIP-seq
MIRT2640208	hsa-miR-512-3p	CLIP-seq
MIRT2640209	hsa-miR-512-5p	CLIP-seq
MIRT2124877	hsa-miR-513a-3p	CLIP-seq
MIRT2640210	hsa-miR-518d-5p	CLIP-seq
MIRT2640211	hsa-miR-519a	CLIP-seq
MIRT2640212	hsa-miR-519b-3p	CLIP-seq
MIRT2640213	hsa-miR-519b-5p	CLIP-seq
MIRT2640214	hsa-miR-519c-3p	CLIP-seq
MIRT2640215	hsa-miR-519c-5p	CLIP-seq
MIRT2640216	hsa-miR-519d	CLIP-seq
MIRT2640217	hsa-miR-520c-5p	CLIP-seq
MIRT2640218	hsa-miR-520d-5p	CLIP-seq
MIRT2640219	hsa-miR-522	CLIP-seq
MIRT2640220	hsa-miR-524-5p	CLIP-seq
MIRT2640221	hsa-miR-526a	CLIP-seq
MIRT2640223	hsa-miR-544	CLIP-seq
MIRT2640224	hsa-miR-548ae	CLIP-seq
MIRT2640225	hsa-miR-548aj	CLIP-seq
MIRT2640226	hsa-miR-548am	CLIP-seq
MIRT2640227	hsa-miR-548c-3p	CLIP-seq
MIRT2640228	hsa-miR-548t	CLIP-seq
MIRT739366	hsa-miR-548v	CLIP-seq
MIRT2640229	hsa-miR-548x	CLIP-seq
MIRT2640230	hsa-miR-568	CLIP-seq
MIRT2640231	hsa-miR-579	CLIP-seq
MIRT2640232	hsa-miR-591	CLIP-seq
MIRT2640233	hsa-miR-606	CLIP-seq
MIRT2347286	hsa-miR-614	CLIP-seq
MIRT2640234	hsa-miR-617	CLIP-seq
MIRT2640235	hsa-miR-629	CLIP-seq
MIRT2347287	hsa-miR-630	CLIP-seq
MIRT2640236	hsa-miR-651	CLIP-seq
MIRT2640237	hsa-miR-655	CLIP-seq
MIRT2640238	hsa-miR-656	CLIP-seq
MIRT2640239	hsa-miR-659	CLIP-seq
MIRT2640240	hsa-miR-664	CLIP-seq
MIRT2640241	hsa-miR-708	CLIP-seq
MIRT2640243	hsa-miR-876-5p	CLIP-seq
MIRT2640245	hsa-miR-891b	CLIP-seq
MIRT2640246	hsa-miR-93	CLIP-seq

Show/Hide all (8)

Transcription factor	Regulation	Reference
EGR1	Activation	18798221
HOXB1	Repression	15126340
HOXB13	Repression	15928669
LEF1	Unknown	19174556
RUNX3	Activation	24447505
TP63	Activation	22232078
VHL	Unknown	16407833
ZIC2	Repression	21908606

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	21880741
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	12651860
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	8978694
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	8978694
GO:0001093	Function	TFIIB-class transcription factor binding	ISS	8978694
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	8978694
GO:0003677	Function	DNA binding	IDA	1681116
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	2105528, 11802795
GO:0005515	Function	Protein binding	IPI	9824680, 10903890, 16549780, 17318191, 17983804, 19534813, 21103407, 21743491, 21988832, 25402006, 25416956, 25466284, 25609649, 25910212, 26871637, 28051067, 28514442, 29361949, 29892012, 31515488, 32296183, 32814053, 33961781, 35140242, 36217029, 37207277
GO:0005634	Component	Nucleus	IDA	1681116, 21828274
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IBA
GO:0005667	Component	Transcription regulator complex	ISS	8978694
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0008013	Function	Beta-catenin binding	IPI	29739711
GO:0030154	Process	Cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	10903890, 25609649
GO:0045666	Process	Positive regulation of neuron differentiation	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	2105528, 12651860
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	8978694
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0065004	Process	Protein-DNA complex assembly	ISS	8978694
GO:0070369	Component	Beta-catenin-TCF7L2 complex	IDA	12651860
GO:0070888	Function	E-box binding	ISS	8978694
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990907	Component	Beta-catenin-TCF complex	IPI

MIM	HGNC	e!Ensembl
602272	11634	ENSG00000196628

P15884

Protein name

Transcription factor 4 (TCF-4) (Class B basic helix-loop-helix protein 19) (bHLHb19) (Immunoglobulin transcription factor 2) (ITF-2) (SL3-3 enhancer factor 2) (SEF-2)

Protein function

Transcription factor that binds to the immunoglobulin enhancer Mu-E5/KE5-motif. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3'). Binds to the E-box present in the somatostati

PDB

2KWF , 6OD3 , 6OD4 , 6OD5 , 8OSB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00010	HLH	565 → 618	Helix-loop-helix DNA-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in adult heart, brain, placenta, skeletal muscle and to a lesser extent in the lung. In developing embryonic tissues, expression mostly occurs in the brain.

Sequence

MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWG
NGGHPSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQSKTERGSYSSYGRESNLQG
CHQQSLLGGDMDMGNPGTLSPTKPGSQYYQYSSNNPRRRPLHSSAMEVQTKKVRKVPPGL
PSSVYAPSASTADYNRDSPGYPSSKPATSTFPSSFFMQDGHHSSDPWSSSSGMNQPGYAG
MLGNSSHIPQSSSYCSLHPHERLSYPSHSSADINSSLPPMSTFHRSGTNHYSTSSCTPPA
NGTDSIMANRGSGAAGSSQTGDALGKALASIYSPDHTNNSFSSNPSTPVGSPPSLSAGTA
VWSRNGGQASSSPNYEGPLHSLQSRIEDRLERLDDAIHVLRNHAVGPSTAMPGGHGDMHG
IIGPSHNGAMGGLGSGYGTGLLSANRHSLMVGTHREDGVALRGSHSLLPNQVPVPQLPVQ
SATSPDLNPPQDPYRGMPPGLQGQSVSSGSSEIKSDDEGDENLQDTKSSEDKKLDDDKKD
IKSITSNNDDEDLTPEQKAEREKERRMANNARERLRVRDINEAFKELGRMVQLHLKSDKP
QTKLLILHQAVAVILSLEQQVRERNLNPKAACLKRREEEKVSSEPPPLSLAGPHPGMGDA
SNHMGQM

Sequence length

667

Interactions

View interactions

	Reactome
			Myogenesis

980

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Pathogenic	rs587784464	RCV003313939
Cerebral hypoplasia	Pathogenic	rs1057518848	RCV000415111
Corneal dystrophy, Fuchs endothelial, 3	Pathogenic; Likely pathogenic	rs121909122, rs878853149, rs2512664352, rs2512226967, rs2512666940, rs1568622225, rs1568305976, rs1600404795, rs121909123	RCV001249620 RCV003224231 RCV003445349 RCV003883361 RCV003883370 RCV000681655 RCV000760226 RCV001027850 RCV003883128
Developmental disorder	Pathogenic	rs2511499685	RCV003127256
Global developmental delay	Likely pathogenic; Pathogenic	rs2144406630, rs1057518848, rs2511633571	RCV002463815 RCV000415111 RCV001255403
Hereditary spastic paraplegia 4	Likely pathogenic	rs2512178559	RCV003314498
Intellectual disability	Pathogenic; Likely pathogenic	rs878853149, rs1599375711, rs398123561	RCV000224478 RCV000851504 RCV000224701
Malignant tumor of esophagus	Pathogenic	rs121909121	RCV005887337
Medulloblastoma SHH activated	Pathogenic	rs1057521070	RCV006254053
Microcephaly	Pathogenic	rs1555710223, rs121909123	RCV001252686 RCV001003999
Neurodevelopmental disorder	Pathogenic	rs398123561	RCV001374933
Pitt-Hopkins syndrome	Likely pathogenic; Pathogenic	rs2047107163, rs2145681074, rs2146265987, rs2144596313, rs1555718410, rs1555764797, rs2146144310, rs2144403104, rs2146147977, rs2144674947, rs2145955178, rs2145503179, rs2146265828, rs2145729217, rs2144676461 View all (147 more)	RCV001337348 RCV001379512 RCV001377381 RCV001381770 RCV001384784 RCV001384836 RCV001390496 RCV001788532 RCV001528123 RCV001563622 RCV003225973 RCV001769978 RCV001775344 RCV001775439 RCV001785391 RCV005638590 RCV001824476 RCV003152773 RCV001923293 RCV001939393 RCV001964224 RCV002044024 RCV001928681 RCV001993279 RCV002000804 RCV002048467 RCV001876527 RCV002226957 RCV002246764 RCV002246765 RCV002246767 RCV002273054 RCV002273291 RCV000147718 RCV000147716 RCV000147715 RCV000147712 RCV000147731 RCV000147730 RCV000147728 RCV000147725 RCV000147724 RCV000147723 RCV000147722 RCV005401954 RCV002284996 RCV002285253 RCV002288341 RCV001283846 RCV002302436 RCV000767348 RCV000157067 RCV002465448 RCV002470405 RCV002508173 RCV003064520 RCV001507033 RCV004784153 RCV000645474 RCV000190500 RCV002820850 RCV000191133 RCV000192539 RCV000193169 RCV000195129 RCV000194246 RCV002886710 RCV000194458 RCV002899371 RCV000198247 RCV000007795 RCV000007796 RCV000007797 RCV000007799 RCV000007800 RCV000795184 RCV002790025 RCV002810047 RCV003223537 RCV003314292 RCV003334374 RCV003448634 RCV003507537 RCV003507060 RCV003507882 RCV003618256 RCV003618362 RCV003618376 RCV003617394 RCV003883361 RCV003883370 RCV003990256 RCV003989455 RCV004595258 RCV005625582 RCV000856758 RCV001198319 RCV000519390 RCV000417112 RCV001507071 RCV001507045 RCV003507281 RCV000660298 RCV000496195 RCV000655944 RCV000500332 RCV000499729 RCV000501849 RCV004796226 RCV000524725 RCV000535942 RCV000541444 RCV000824831 RCV005252993 RCV001507066 RCV000656529 RCV000660297 RCV000660296 RCV000660295 RCV000678346 RCV000680120 RCV000680119 RCV000680121 RCV000681655 RCV000684922 RCV000705624 RCV000696955 RCV000685198 RCV000700659 RCV000689642 RCV000990105 RCV004819232 RCV000760226 RCV000768431 RCV000818658 RCV000813294 RCV000801759 RCV000824850 RCV000824955 RCV000851328 RCV000857224 RCV000990102 RCV000990103 RCV000990104 RCV000995664 RCV003444736 RCV001027850 RCV001027865 RCV001069850 RCV001059274 RCV001063198 RCV001221156 RCV001204774 RCV001213733 RCV001229484 RCV001226861 RCV001238426 RCV001227333 RCV001238298 RCV001252366 RCV001253783 RCV001255977 RCV001374737 RCV001507025 RCV000079458 RCV000995665 RCV001300533
Severe intellectual deficiency	Pathogenic	rs121909120	RCV000415008
TCF4-related disorder	Likely pathogenic; Pathogenic	rs1555710813, rs2511498290, rs2512111219, rs1057521070, rs121909123	RCV003393002 RCV003402161 RCV003399861 RCV003422397 RCV003398670

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs35969244	RCV005903899
Congenital myopathy	Likely benign	rs567398278	RCV005621887
Esophageal atresia	Likely benign	rs1556050492	RCV000984688
Familial cancer of breast	Likely benign; Benign	rs143555588, rs749176054, rs191464553	RCV005930138 RCV005895176 RCV005899927
Oculomotor apraxia	Conflicting classifications of pathogenicity	rs1016959427	RCV001263440
Ovarian serous cystadenocarcinoma	Benign	rs749176054	RCV005895177
Pyloric stenosis	Likely benign	rs1556050492	RCV000984688
See cases	Benign; Likely benign; Uncertain significance	rs200963418, rs2147492353, rs951064935	RCV003231159 RCV002253047 RCV002252422
Seizure	Uncertain significance	rs2147880798	RCV002273870
SUDDEN INFANT DEATH SYNDROME	Uncertain significance	rs2146265783	RCV001787419
Thymoma	Likely benign; Benign	rs143555588, rs35969244	RCV005930139 RCV005903900
Uterine carcinosarcoma	Benign	rs62092442	RCV005902315

Show/Hide Text Mining Associations (147)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	23224985
Adenocarcinoma of Lung	Associate	23224985
Adenoma	Associate	15972967, 18268006, 18992165
Adenomatous Polyposis Coli	Inhibit	10514384
Adenomatous Polyposis Coli	Associate	15972967, 30072583
Adenomatous Polyposis Coli	Stimulate	35537038
Adrenoleukodystrophy	Associate	23437103
Alzheimer Disease	Associate	16306047
Angelman Syndrome	Associate	24058414
Anorectal Malformations	Associate	23127126
Arthritis Rheumatoid	Associate	12428226
Attention Deficit and Disruptive Behavior Disorders	Associate	29322350
Attention Deficit Disorder with Hyperactivity	Associate	24339136
Autism Spectrum Disorder	Associate	28321286, 29228394, 31081034, 32971458, 36448207, 38287090
Autistic Disorder	Associate	22521361, 29228394, 35501322, 38287090
Autonomic Nervous System Diseases	Associate	17436254, 38571311
Behcet Syndrome	Stimulate	36193501
Behcet Syndrome	Associate	36193501
Bipolar Disorder	Associate	28321286, 33116252, 36193501
Body Dysmorphic Disorders	Associate	26993267
Bone Diseases	Associate	17295608
Brain Diseases	Associate	17436254
Breast Neoplasms	Associate	16003740, 21772333, 22805760, 23721519, 23914993, 28351929, 31311202
Bruxism	Associate	29322350
Calcinosis Cutis	Associate	28351929
Carcinogenesis	Associate	15802015, 21892161, 23029137, 23651211, 24528029
Carcinoid Tumor	Associate	33398982
Carcinoma Endometrioid	Associate	29060924
Carcinoma Hepatocellular	Associate	19089909, 21256126, 23437103, 23562475, 23651211, 25311538, 28300839, 30249289, 31698564, 32521895
Carcinoma Non Small Cell Lung	Associate	30536319, 33174523
Carcinoma Ovarian Epithelial	Associate	30614797
Carcinoma Renal Cell	Associate	34598322
Carcinoma Squamous Cell	Associate	15806138, 28099906
Cartilage Diseases	Associate	23603903
Chemical and Drug Induced Liver Injury	Associate	36076262
Chromosome Deletion	Associate	25307298
Cognition Disorders	Associate	27689884, 29105523
Colitis Ulcerative	Associate	24118792
Colonic Neoplasms	Associate	11470825, 21625458
Colorectal Neoplasms	Associate	12408868, 15141037, 16569639, 17167838, 17360646, 18268006, 18992165, 19190323, 20065031, 20460455, 21057000, 21092222, 21668942, 21983179, 22108803 View all (17 more)
Corneal dystrophy Fuchs' endothelial 1	Associate	36883248
Crohn Disease	Associate	19221600
Death	Associate	21671075
Developmental Disabilities	Associate	25307298, 26993267, 27689884, 29228394, 29695756, 35908153
Diabetes Mellitus	Associate	36837510
Diabetes Mellitus Type 2	Associate	35096319
Disease	Associate	18635522
Drug Related Side Effects and Adverse Reactions	Associate	23029137, 29677349
Endometrial Neoplasms	Associate	15806138
Esophageal atresia with or without tracheoesophageal fistula	Associate	36135330
Esophageal Neoplasms	Associate	28536608, 32035486, 35484214
Esophageal Squamous Cell Carcinoma	Associate	28536608
Fanconi Anemia	Associate	36135330
Fibrolamellar hepatocellular carcinoma	Associate	36000549
Fractures Bone	Stimulate	35401881
Fuchs' Endothelial Dystrophy	Associate	20825314, 21245398, 21533127, 22146553, 22234156, 22321803, 23110055, 23185296, 24094747, 24255041, 24917144, 25168903, 25298419, 25593321, 25722209 View all (39 more)
Gallbladder Neoplasms	Associate	35900539
Genetic Diseases Inborn	Associate	22581936, 35501322
Glioblastoma	Associate	23295773, 31410187, 9668116
Glioma	Associate	26708597, 27736002
Glucose Intolerance	Associate	22848420
Hand Injuries	Associate	29322350
Heart Defects Congenital	Associate	23705960
Helicobacter Infections	Associate	24528029
Hemorrhagic Stroke	Associate	10800967
Hernias Diaphragmatic Congenital	Associate	22071887
Hyperplasia	Associate	24913829
Hypersensitivity Immediate	Associate	17206141
Hypertension	Associate	32013702
Hyperventilation	Associate	17436255
Hypoxia	Stimulate	35484214
Hypoxia Brain	Associate	31410187
Idiopathic Pulmonary Fibrosis	Associate	18478089
Ileal Diseases	Associate	19221600
Impotence Vasculogenic	Associate	32035486
Inflammation	Associate	30381402, 35154161
Intellectual Disability	Associate	17436255, 24058414, 27179618, 27689884, 29228394, 29695756, 31081034, 32481733, 38571311
Kearns Sayre Syndrome	Associate	34946867
Keratoconus	Associate	36883248
Klatskin Tumor	Associate	26972709
Language Disorders	Associate	35908153
Laryngeal Neoplasms	Associate	31436384
Leiomyoma	Associate	24534281
Leukemia	Associate	19131553, 30593567
Leukemia Lymphoma Adult T Cell	Associate	19131553
Leukemia Myeloid Acute	Associate	30315825, 30593567
Liver Failure	Associate	35338348
Lung Neoplasms	Associate	26535715, 27014877, 35897813
Lymphatic Metastasis	Stimulate	30614797
Lymphoma Large B Cell Diffuse	Associate	23424639
Lymphoma Mantle Cell	Associate	26048374
Melanoma	Associate	16645588, 19269971, 26968260, 38181739
Menkes Kinky Hair Syndrome	Associate	30315825
Mental Disorders	Associate	22521361, 24339136, 27440233, 29695756, 30545854, 35501322, 35590255, 36193501
Microsatellite Instability	Associate	15802015, 26884349
Mood Disorders	Associate	27440233
Mowat Wilson syndrome	Associate	24058414
Multiple Chronic Conditions	Associate	35590255
Multiple Sclerosis	Associate	31484947, 36250467
Muscular Dystrophy Duchenne	Associate	17295608
Myelodysplastic Syndromes	Associate	30315825
Myotonic Dystrophy	Associate	30025114
Neoplasm Invasiveness	Associate	30651076
Neoplasm Metastasis	Associate	23224985
Neoplasm Metastasis	Stimulate	30614797
Neoplasms	Associate	11940574, 15893313, 18635522, 19749792, 20065031, 21092222, 21668942, 22258766, 22854964, 26708597, 26884349, 27175588, 27278879, 29060924, 31486487 View all (7 more)
Neoplasms	Stimulate	28076475
Nervous System Diseases	Associate	40149012
Neuroblastoma	Associate	31535015
Neuroinflammatory Diseases	Associate	22156527
Obesity	Associate	35401881, 36837510
Olfaction Disorders	Associate	27878761
Opioid Related Disorders	Associate	31081034
Osteoarthritis	Associate	22513174, 32819387, 33675175, 35322736
Osteoarthritis	Stimulate	23603903
Osteoporosis	Associate	35373860
Ovarian Neoplasms	Associate	11943708
Pancreatic Neoplasms	Associate	25910082, 28099906
Paranoid Disorders	Associate	24718684
Pediatric acute onset neuropsychiatric syndrome	Associate	27878761, 30545854
Pitt Hopkins syndrome	Associate	17436254, 17436255, 18635522, 19938247, 20205897, 24058414, 27072915, 27179618, 27689884, 29228394, 29695756, 31081034, 32481733, 32546215, 32971458 View all (6 more)
Prader Willi Syndrome	Associate	28631899
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	30487223
Prostatitis	Associate	12799378
Psychomotor Disorders	Associate	19938247
Psychotic Disorders	Associate	24339136
Rectal Neoplasms	Associate	21983179
Recurrence	Stimulate	30614797
Renal Insufficiency	Associate	32546215, 34946867
Retinal Detachment	Associate	37761846
Rett Syndrome	Associate	26740508, 29322350
RNA Virus Infections	Associate	30025114
Sacral defect and anterior sacral meningocele	Associate	21671075
Schizophrenia	Associate	19571808, 22781169, 22883350, 24058414, 24339136, 24718684, 25658856, 27689884, 28321286, 29105523, 29228394, 30626913, 31081034, 31535015, 35501322, 40149012 View all (1 more)
Seizures	Associate	19938247
Silver Russell Syndrome	Associate	32546215
Sinusitis	Associate	35154161
Speech Disorders	Associate	29695756
Squamous Cell Carcinoma of Head and Neck	Associate	26356417, 33315534
Stiff Skin Syndrome	Associate	32013702
Stomach Diseases	Associate	24528029
Stomach Neoplasms	Associate	18635522, 21042278, 24528029, 25400723, 28076475, 31599413, 33458917, 34686186, 35874675
Thyroid Cancer Papillary	Associate	21814573
Torus Palatinus and Torus Mandibularis	Associate	17295608
Uterine Cervical Neoplasms	Associate	30678687, 31298314, 32572909
Wolf Hirschhorn Syndrome	Associate	22028615
Wounds and Injuries	Associate	35322736

TCF4 (transcription factor 4)